Canonical Allele Identifier: CA1225124174

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984235_226984239delinsGGTTT , CM000663.2:g.226984235_226984239delinsGGTTT	GRCh38
NC_000001.10:g.227171936_227171940delinsGGTTT , CM000663.1:g.227171936_227171940delinsGGTTT	GRCh37
NC_000001.9:g.225238559_225238563delinsGGTTT	NCBI36
NG_012825.1:g.48999_49003delinsGGTTT
NG_012825.2:g.91700_91704delinsGGTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1398_1398+4delinsGGTTT
ENST00000366779.6:c.*6125_*6125+4delinsGGTTT
ENST00000366777.3:c.1398_1398+4delinsGGTTT
ENST00000366778.5:c.1242_1242+4delinsGGTTT
ENST00000366779.5:c.1398_1398+4delinsGGTTT
ENST00000478406.5:n.2260_2260+4delinsGGTTT
ENST00000479852.1:n.585_585+4delinsGGTTT
ENST00000485462.5:n.788_788+4delinsGGTTT
NM_020247.4:c.1398_1398+4delinsGGTTT
XM_005273201.1:c.1398_1398+4delinsGGTTT
XM_011544238.1:c.1398_1398+4delinsGGTTT
XM_011544239.1:c.1398_1398+4delinsGGTTT
XM_011544240.1:c.1398_1398+4delinsGGTTT
XM_011544241.1:c.1398_1398+4delinsGGTTT
XM_011544239.2:c.1398_1398+4delinsGGTTT
XM_011544241.2:c.1398_1398+4delinsGGTTT
XM_017001852.1:c.1398_1398+4delinsGGTTT
XM_024448517.1:c.1398_1398+4delinsGGTTT
XM_024448518.1:c.1398_1398+4delinsGGTTT
NM_020247.5:c.1398_1398+4delinsGGTTT